A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15865577



Internal ID19937517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47087232..47153416hg38UCSC Ensembl
chr2:47314371..47380555hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3866185
hg1966185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4071297
Supporting Variants
Samples
Known GenesC2orf61
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15865577
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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